{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA009368", "communityStandardTitle": [ "NM_000038.6(APC):c.4237A>G (p.Met1413Val)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4169481", "active": true, "id": "COSM4169481" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137249[alleleid]", "alleleId": 137249, "preferredName": "NM_000038.6(APC):c.4237A>G (p.Met1413Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133510", "RCV": [ "RCV000120015", "RCV000122777", "RCV000148358", "RCV000589855", "RCV000131786", "RCV003764834", "RCV003915187" ], "variationId": 133510 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-112175528-A-G", "id": "5-112175528-A-G", "variant": "5:112175528 A / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112175528A>G?assembly=hg19", "id": "chr5:g.112175528A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112839831A>G?assembly=hg38", "id": "chr5:g.112839831A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/141519952", "rs": 141519952 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112175528-A-G?dataset=gnomad_r2_1", "id": "5-112175528-A-G", "variant": "5:112175528 A / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112839831-A-G?dataset=gnomad_r3", "id": "5-112839831-A-G", "variant": "5:112839831 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112839831-A-G?dataset=gnomad_r4", "id": "5-112839831-A-G", "variant": "5:112839831 A / G" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 112839831, "referenceAllele": "A", "start": 112839830 } ], "hgvs": [ "NC_000005.10:g.112839831A>G", "CM000667.2:g.112839831A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 112175528, "referenceAllele": "A", "start": 112175527 } ], "hgvs": [ "NC_000005.9:g.112175528A>G", "CM000667.1:g.112175528A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 112203427, "referenceAllele": "A", "start": 112203426 } ], "hgvs": [ "NC_000005.8:g.112203427A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "G", "end": 152311, "referenceAllele": "A", "start": 152310 } ], "hgvs": [ "NG_008481.4:g.152311A>G", "LRG_130:g.152311A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3902, "referenceAllele": "A", "start": 3901 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.3:c.3902A>G" ], "proteinEffect": { "hgvs": "ENSP00000484935.2:n.3902A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914176" }, { "coordinates": [ { "allele": "G", "end": 4347, "referenceAllele": "A", "start": 4346 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.4291A>G" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Met1431Val", "hgvsWellDefined": "ENSP00000473355.2:p.Met1431Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "G", "end": 4617, "referenceAllele": "A", "start": 4616 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*4243A>G" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*4243A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "G", "end": 4379, "referenceAllele": "A", "start": 4378 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.4183A>G" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Met1395Val", "hgvsWellDefined": "ENSP00000423224.2:p.Met1395Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "G", "end": 4387, "referenceAllele": "A", "start": 4386 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.4237A>G" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Met1413Val", "hgvsWellDefined": "ENSP00000426541.2:p.Met1413Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "G", "end": 4588, "referenceAllele": "A", "start": 4587 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.4237A>G" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Met1413Val", "hgvsWellDefined": "ENSP00000423828.3:p.Met1413Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "G", "end": 4296, "referenceAllele": "A", "start": 4295 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.4237A>G" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Met1413Val", "hgvsWellDefined": "ENSP00000257430.4:p.Met1413Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.4237A>G" }, "RefSeq": { "hgvs": "NM_000038.6:c.4237A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Met1413Val" }, "RefSeq": { "hgvs": "NP_000029.2:p.Met1413Val" } } } }, { "coordinates": [ { "allele": "G", "end": 4293, "referenceAllele": "A", "start": 4292 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.4237A>G" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Met1413Val", "hgvsWellDefined": "ENSP00000257430.4:p.Met1413Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "G", "end": 2590, "referenceAllele": "A", "start": 2589 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.2:c.2590A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS334951" }, { "coordinates": [ { "allele": "G", "end": 4394, "referenceAllele": "A", "start": 4393 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.4237A>G" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Met1413Val", "hgvsWellDefined": "ENSP00000427089.2:p.Met1413Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "G", "end": 4482, "referenceAllele": "A", "start": 4481 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*3559A>G" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*3559A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "G", "end": 230, "endIntronDirection": "+", "endIntronOffset": 10859, "referenceAllele": "A", "start": 230, "startIntronDirection": "+", "startIntronOffset": 10858 } ], "hgvs": [ "ENST00000520401.1:c.230+10859A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA156732", "coordinates": [ { "allele": "G", "end": 4322, "referenceAllele": "A", "start": 4321 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.4237A>G" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Met1413Val", "hgvsWellDefined": "NP_000029.2:p.Met1413Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA156733", "coordinates": [ { "allele": "G", "end": 4430, "referenceAllele": "A", "start": 4429 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.4237A>G" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Met1413Val", "hgvsWellDefined": "NP_001120982.1:p.Met1413Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA156731", "coordinates": [ { "allele": "G", "end": 4396, "referenceAllele": "A", "start": 4395 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.4183A>G" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Met1395Val", "hgvsWellDefined": "NP_001120983.2:p.Met1395Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827943956", "coordinates": [ { "allele": "G", "end": 4633, "referenceAllele": "A", "start": 4632 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.4237A>G" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Met1413Val", "hgvsWellDefined": "NP_001341824.1:p.Met1413Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916040189", "coordinates": [ { "allele": "G", "end": 4376, "referenceAllele": "A", "start": 4375 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.4291A>G" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Met1431Val", "hgvsWellDefined": "NP_001341825.1:p.Met1431Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827958645", "coordinates": [ { "allele": "G", "end": 4480, "referenceAllele": "A", "start": 4479 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.4267A>G" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Met1423Val", "hgvsWellDefined": "NP_001341826.1:p.Met1423Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827967782", "coordinates": [ { "allele": "G", "end": 4277, "referenceAllele": "A", "start": 4276 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.4162A>G" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Met1388Val", "hgvsWellDefined": "NP_001341827.1:p.Met1388Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827976955", "coordinates": [ { "allele": "G", "end": 4238, "referenceAllele": "A", "start": 4237 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.4153A>G" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Met1385Val", "hgvsWellDefined": "NP_001341828.1:p.Met1385Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827986033", "coordinates": [ { "allele": "G", "end": 4223, "referenceAllele": "A", "start": 4222 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.4114A>G" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Met1372Val", "hgvsWellDefined": "NP_001341829.1:p.Met1372Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827995098", "coordinates": [ { "allele": "G", "end": 4169, "referenceAllele": "A", "start": 4168 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.4060A>G" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Met1354Val", "hgvsWellDefined": "NP_001341830.1:p.Met1354Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828008672", "coordinates": [ { "allele": "G", "end": 4177, "referenceAllele": "A", "start": 4176 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.3964A>G" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Met1322Val", "hgvsWellDefined": "NP_001341831.1:p.Met1322Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828021415", "coordinates": [ { "allele": "G", "end": 4019, "referenceAllele": "A", "start": 4018 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.3934A>G" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Met1312Val", "hgvsWellDefined": "NP_001341832.1:p.Met1312Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828039855", "coordinates": [ { "allele": "G", "end": 3974, "referenceAllele": "A", "start": 3973 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.3859A>G" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Met1287Val", "hgvsWellDefined": "NP_001341833.1:p.Met1287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828006141", "coordinates": [ { "allele": "G", "end": 3866, "referenceAllele": "A", "start": 3865 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.3757A>G" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Met1253Val", "hgvsWellDefined": "NP_001341834.1:p.Met1253Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828021401", "coordinates": [ { "allele": "G", "end": 4508, "referenceAllele": "A", "start": 4507 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.3388A>G" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Met1130Val", "hgvsWellDefined": "NP_001341835.1:p.Met1130Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA156732", "coordinates": [ { "allele": "G", "end": 4296, "referenceAllele": "A", "start": 4295 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.4237A>G" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Met1413Val", "hgvsWellDefined": "NP_000029.2:p.Met1413Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.4237A>G" }, "RefSeq": { "hgvs": "NM_000038.6:c.4237A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Met1413Val" }, "RefSeq": { "hgvs": "NP_000029.2:p.Met1413Val" } } } }, { "@id": "http://reg.genome.network/allele/PA156733", "coordinates": [ { "allele": "G", "end": 4404, "referenceAllele": "A", "start": 4403 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.4237A>G" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Met1413Val", "hgvsWellDefined": "NP_001120982.1:p.Met1413Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA156731", "coordinates": [ { "allele": "G", "end": 4403, "referenceAllele": "A", "start": 4402 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.4183A>G" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Met1395Val", "hgvsWellDefined": "NP_001120983.2:p.Met1395Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827943956", "coordinates": [ { "allele": "G", "end": 4640, "referenceAllele": "A", "start": 4639 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.4237A>G" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Met1413Val", "hgvsWellDefined": "NP_001341824.1:p.Met1413Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916040189", "coordinates": [ { "allele": "G", "end": 4350, "referenceAllele": "A", "start": 4349 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.4291A>G" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Met1431Val", "hgvsWellDefined": "NP_001341825.1:p.Met1431Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827958645", "coordinates": [ { "allele": "G", "end": 4487, "referenceAllele": "A", "start": 4486 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.4267A>G" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Met1423Val", "hgvsWellDefined": "NP_001341826.1:p.Met1423Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827967782", "coordinates": [ { "allele": "G", "end": 4251, "referenceAllele": "A", "start": 4250 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.4162A>G" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Met1388Val", "hgvsWellDefined": "NP_001341827.1:p.Met1388Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827976955", "coordinates": [ { "allele": "G", "end": 4212, "referenceAllele": "A", "start": 4211 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.4153A>G" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Met1385Val", "hgvsWellDefined": "NP_001341828.1:p.Met1385Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827986033", "coordinates": [ { "allele": "G", "end": 4197, "referenceAllele": "A", "start": 4196 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.4114A>G" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Met1372Val", "hgvsWellDefined": "NP_001341829.1:p.Met1372Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827995098", "coordinates": [ { "allele": "G", "end": 4143, "referenceAllele": "A", "start": 4142 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.4060A>G" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Met1354Val", "hgvsWellDefined": "NP_001341830.1:p.Met1354Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828008672", "coordinates": [ { "allele": "G", "end": 4184, "referenceAllele": "A", "start": 4183 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.3964A>G" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Met1322Val", "hgvsWellDefined": "NP_001341831.1:p.Met1322Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828021415", "coordinates": [ { "allele": "G", "end": 3993, "referenceAllele": "A", "start": 3992 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.3934A>G" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Met1312Val", "hgvsWellDefined": "NP_001341832.1:p.Met1312Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828039855", "coordinates": [ { "allele": "G", "end": 3948, "referenceAllele": "A", "start": 3947 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.3859A>G" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Met1287Val", "hgvsWellDefined": "NP_001341833.1:p.Met1287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828006141", "coordinates": [ { "allele": "G", "end": 3840, "referenceAllele": "A", "start": 3839 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.3757A>G" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Met1253Val", "hgvsWellDefined": "NP_001341834.1:p.Met1253Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828021401", "coordinates": [ { "allele": "G", "end": 4482, "referenceAllele": "A", "start": 4481 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.3388A>G" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Met1130Val", "hgvsWellDefined": "NP_001341835.1:p.Met1130Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }